期刊
KIDNEY INTERNATIONAL
卷 98, 期 6, 页码 1605-1614出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.kint.2020.06.038
关键词
ACE inhibitor; genotype-phenotype correlation; X-linked Alport syndrome
资金
- Ministry of Health, Labour and Welfare of Japan for Research on Rare Intractable Diseases in the Kidney and Urinary Tract [H24-nanchitou (nan)-ippan041]
- Ministry of Education, Culture, Sports, Science and Technology of Japan [16K19642, 19K17710, 15K09691, 17H04189]
- AMED [7930006]
- Grants-in-Aid for Scientific Research [19K17710, 16K19642] Funding Source: KAKEN
Early kidney failure in the hereditary type IV collagen disease, Alport syndrome, can be delayed by reninangiotensin inhibitors. However, whether all patients and all different genotypes respond equally well to this kidney protective therapy remains unclear. Here, we performed a retrospective study on 430 patients with male X-linked Alport syndrome to examine the relationships among kidney prognosis, genotype, and treatment effect in a large cohort of Japanese patients. We analyzed the clinical features, genotype-phenotype correlation, and kidney survival period for patients treated with or without reninangiotensin inhibitors. As a result, the median kidney survival period of patients in this cohort was found to be at 35 years with a strong genotype-phenotype correlation. The median age at the onset of end stage kidney disease (ESKD) significantly differed between patients treated with and without renin-angiotensin inhibitors (over 50 years versus 28 years, respectively). Moreover, these drugs delayed the onset of ESKD in patients with truncating variants for 12 years, extending the median age from 16 years to 28 years. Thus, our results confirmed a strong genotype-phenotype correlation in patients with male X linked Alport syndrome. Additionally, it was suggested that renin-angiotensin inhibitors could significantly delay ESKD progression. Despite these therapies, patients with truncating variants developed ESKD at the median age of 28 years.
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